Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction

Kristia Yiangou; Nasim Mavaddat; Joe Dennis; Maria Zanti; Qin Wang; Manjeet K Bolla; Mustapha Abubakar; Thomas U Ahearn; Irene L Andrulis; Hoda Anton-Culver; Natalia N Antonenkova; Volker Arndt; Kristan J Aronson; Annelie Augustinsson; Adinda Baten; Sabine Behrens; Marina Bermisheva; Amy Berrington de Gonzalez; Katarzyna Białkowska; Nicholas Boddicker; Clara Bodelon; Natalia V Bogdanova; Stig E Bojesen; Kristen D Brantley; Hiltrud Brauch; Hermann Brenner; Nicola J Camp; Federico Canzian; Jose E Castelao; Melissa H Cessna; Jenny Chang-Claude; Georgia Chenevix-Trench; Wendy K Chung; Sarah V Colonna; Fergus J Couch; Angela Cox; Simon S Cross; Kamila Czene; Mary B Daly; Peter Devilee; Thilo Dörk; Alison M Dunning; Diana M Eccles; A Heather Eliassen; Christoph Engel; Mikael Eriksson; D Gareth Evans; Peter A Fasching; Olivia Fletcher; Henrik Flyger; Lin Fritschi; Manuela Gago-Dominguez; Aleksandra Gentry-Maharaj; Anna González-Neira; Pascal Guénel; Eric Hahnen; Christopher A Haiman; Ute Hamann; Jaana M Hartikainen; Vikki Ho; James Hodge; Antoinette Hollestelle; Ellen Honisch; Maartje J Hooning; Reiner Hoppe; John L Hopper; Sacha Howell; Anthony Howell; Simona Jakovchevska; Anna Jakubowska; Helena Jernström; Nichola Johnson; Rudolf Kaaks; Elza K Khusnutdinova; Cari M Kitahara; Stella Koutros; Vessela N Kristensen; James V Lacey; Diether Lambrechts; Flavio Lejbkowicz; Annika Lindblom; Michael Lush; Arto Mannermaa; Dimitrios Mavroudis; Usha Menon; Rachel A Murphy; Heli Nevanlinna; Nadia Obi; Kenneth Offit; Tjoung-Won Park-Simon; Alpa V Patel; Cheng Peng; Paolo Peterlongo; Guillermo Pita; Dijana Plaseska-Karanfilska; Katri Pylkäs; Paolo Radice; Muhammad U Rashid; Gad Rennert; Eleanor Roberts; Juan Rodriguez; Atocha Romero; Efraim H Rosenberg; Emmanouil Saloustros; Dale P Sandler; Elinor J Sawyer; Rita K Schmutzler; Christopher G Scott; Xiao-Ou Shu; Melissa C Southey; Jennifer Stone; Jack A Taylor; Lauren R Teras; Irma van de Beek; Walter Willett; Robert Winqvist; Wei Zheng; Celine M Vachon; Marjanka K Schmidt; Per Hall; Robert J MacInnis; Roger L Milne; Paul D P Pharoah; Jacques Simard; Antonis C Antoniou; Douglas F Easton; Kyriaki Michailidou; NBCS Collaborators

doi:10.1101/2024.02.12.24302043

Differences in polygenic score distributions in European ancestry populations

Standard

Differences in polygenic score distributions in European ancestry populations : implications for breast cancer risk prediction. / Yiangou, Kristia; Mavaddat, Nasim; Dennis, Joe; Zanti, Maria; Wang, Qin; Bolla, Manjeet K; Abubakar, Mustapha; Ahearn, Thomas U; Andrulis, Irene L; Anton-Culver, Hoda; Antonenkova, Natalia N; Arndt, Volker; Aronson, Kristan J; Augustinsson, Annelie; Baten, Adinda; Behrens, Sabine; Bermisheva, Marina; de Gonzalez, Amy Berrington; Białkowska, Katarzyna; Boddicker, Nicholas; Bodelon, Clara; Bogdanova, Natalia V; Bojesen, Stig E; Brantley, Kristen D; Brauch, Hiltrud; Brenner, Hermann; Camp, Nicola J; Canzian, Federico; Castelao, Jose E; Cessna, Melissa H; Chang-Claude, Jenny; Chenevix-Trench, Georgia; Chung, Wendy K; Colonna, Sarah V; Couch, Fergus J; Cox, Angela; Cross, Simon S; Czene, Kamila; Daly, Mary B; Devilee, Peter; Dörk, Thilo; Dunning, Alison M; Eccles, Diana M; Eliassen, A Heather; Engel, Christoph; Eriksson, Mikael; Evans, D Gareth; Fasching, Peter A; Fletcher, Olivia; Flyger, Henrik; Fritschi, Lin; Gago-Dominguez, Manuela; Gentry-Maharaj, Aleksandra; González-Neira, Anna; Guénel, Pascal; Hahnen, Eric; Haiman, Christopher A; Hamann, Ute; Hartikainen, Jaana M; Ho, Vikki; Hodge, James; Hollestelle, Antoinette; Honisch, Ellen; Hooning, Maartje J; Hoppe, Reiner; Hopper, John L; Howell, Sacha; Howell, Anthony; Jakovchevska, Simona; Jakubowska, Anna; Jernström, Helena; Johnson, Nichola; Kaaks, Rudolf; Khusnutdinova, Elza K; Kitahara, Cari M; Koutros, Stella; Kristensen, Vessela N; Lacey, James V; Lambrechts, Diether; Lejbkowicz, Flavio; Lindblom, Annika; Lush, Michael; Mannermaa, Arto; Mavroudis, Dimitrios; Menon, Usha; Murphy, Rachel A; Nevanlinna, Heli; Obi, Nadia; Offit, Kenneth; Park-Simon, Tjoung-Won; Patel, Alpa V; Peng, Cheng; Peterlongo, Paolo; Pita, Guillermo; Plaseska-Karanfilska, Dijana; Pylkäs, Katri; Radice, Paolo; Rashid, Muhammad U; Rennert, Gad; Roberts, Eleanor; Rodriguez, Juan; Romero, Atocha; Rosenberg, Efraim H; Saloustros, Emmanouil; Sandler, Dale P; Sawyer, Elinor J; Schmutzler, Rita K; Scott, Christopher G; Shu, Xiao-Ou; Southey, Melissa C; Stone, Jennifer; Taylor, Jack A; Teras, Lauren R; van de Beek, Irma; Willett, Walter; Winqvist, Robert; Zheng, Wei; Vachon, Celine M; Schmidt, Marjanka K; Hall, Per; MacInnis, Robert J; Milne, Roger L; Pharoah, Paul D P; Simard, Jacques; Antoniou, Antonis C; Easton, Douglas F; Michailidou, Kyriaki; NBCS Collaborators.

in: medRxiv, 13.02.2024.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Yiangou, K, Mavaddat, N, Dennis, J, Zanti, M, Wang, Q, Bolla, MK, Abubakar, M, Ahearn, TU, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Arndt, V, Aronson, KJ, Augustinsson, A, Baten, A, Behrens, S, Bermisheva, M, de Gonzalez, AB, Białkowska, K, Boddicker, N, Bodelon, C, Bogdanova, NV, Bojesen, SE, Brantley, KD, Brauch, H, Brenner, H, Camp, NJ, Canzian, F, Castelao, JE, Cessna, MH, Chang-Claude, J, Chenevix-Trench, G, Chung, WK, Colonna, SV, Couch, FJ, Cox, A, Cross, SS, Czene, K, Daly, MB, Devilee, P, Dörk, T, Dunning, AM, Eccles, DM, Eliassen, AH, Engel, C, Eriksson, M, Evans, DG, Fasching, PA, Fletcher, O, Flyger, H, Fritschi, L, Gago-Dominguez, M, Gentry-Maharaj, A, González-Neira, A, Guénel, P, Hahnen, E, Haiman, CA, Hamann, U, Hartikainen, JM, Ho, V, Hodge, J, Hollestelle, A, Honisch, E, Hooning, MJ, Hoppe, R, Hopper, JL, Howell, S, Howell, A, Jakovchevska, S, Jakubowska, A, Jernström, H, Johnson, N, Kaaks, R, Khusnutdinova, EK, Kitahara, CM, Koutros, S, Kristensen, VN, Lacey, JV, Lambrechts, D, Lejbkowicz, F, Lindblom, A, Lush, M, Mannermaa, A, Mavroudis, D, Menon, U, Murphy, RA, Nevanlinna, H, Obi, N, Offit, K, Park-Simon, T-W, Patel, AV, Peng, C, Peterlongo, P, Pita, G, Plaseska-Karanfilska, D, Pylkäs, K, Radice, P, Rashid, MU, Rennert, G, Roberts, E, Rodriguez, J, Romero, A, Rosenberg, EH, Saloustros, E, Sandler, DP, Sawyer, EJ, Schmutzler, RK, Scott, CG, Shu, X-O, Southey, MC, Stone, J, Taylor, JA, Teras, LR, van de Beek, I, Willett, W, Winqvist, R, Zheng, W, Vachon, CM, Schmidt, MK, Hall, P, MacInnis, RJ, Milne, RL, Pharoah, PDP, Simard, J, Antoniou, AC, Easton, DF, Michailidou, K & NBCS Collaborators 2024, 'Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction', medRxiv. https://doi.org/10.1101/2024.02.12.24302043

APA

Yiangou, K., Mavaddat, N., Dennis, J., Zanti, M., Wang, Q., Bolla, M. K., Abubakar, M., Ahearn, T. U., Andrulis, I. L., Anton-Culver, H., Antonenkova, N. N., Arndt, V., Aronson, K. J., Augustinsson, A., Baten, A., Behrens, S., Bermisheva, M., de Gonzalez, A. B., Białkowska, K., ... NBCS Collaborators (2024). Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction. medRxiv. https://doi.org/10.1101/2024.02.12.24302043

Vancouver

Yiangou K, Mavaddat N, Dennis J, Zanti M, Wang Q, Bolla MK et al. Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction. medRxiv. 2024 Feb 13. https://doi.org/10.1101/2024.02.12.24302043

Bibtex

@article{310dfbc18c1f41728b1af343d2658c5c,

title = "Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction",

abstract = "The 313-variant polygenic risk score (PRS313) provides a promising tool for breast cancer risk prediction. However, evaluation of the PRS313 across different European populations which could influence risk estimation has not been performed. Here, we explored the distribution of PRS313 across European populations using genotype data from 94,072 females without breast cancer, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 225,105 female participants from the UK Biobank. The mean PRS313 differed markedly across European countries, being highest in south-eastern Europe and lowest in north-western Europe. Using the overall European PRS313 distribution to categorise individuals leads to overestimation and underestimation of risk in some individuals from south-eastern and north-western countries, respectively. Adjustment for principal components explained most of the observed heterogeneity in mean PRS. Country-specific PRS distributions may be used to calibrate risk categories in individuals from different countries.",

author = "Kristia Yiangou and Nasim Mavaddat and Joe Dennis and Maria Zanti and Qin Wang and Bolla, {Manjeet K} and Mustapha Abubakar and Ahearn, {Thomas U} and Andrulis, {Irene L} and Hoda Anton-Culver and Antonenkova, {Natalia N} and Volker Arndt and Aronson, {Kristan J} and Annelie Augustinsson and Adinda Baten and Sabine Behrens and Marina Bermisheva and {de Gonzalez}, {Amy Berrington} and Katarzyna Bia{\l}kowska and Nicholas Boddicker and Clara Bodelon and Bogdanova, {Natalia V} and Bojesen, {Stig E} and Brantley, {Kristen D} and Hiltrud Brauch and Hermann Brenner and Camp, {Nicola J} and Federico Canzian and Castelao, {Jose E} and Cessna, {Melissa H} and Jenny Chang-Claude and Georgia Chenevix-Trench and Chung, {Wendy K} and Colonna, {Sarah V} and Couch, {Fergus J} and Angela Cox and Cross, {Simon S} and Kamila Czene and Daly, {Mary B} and Peter Devilee and Thilo D{\"o}rk and Dunning, {Alison M} and Eccles, {Diana M} and Eliassen, {A Heather} and Christoph Engel and Mikael Eriksson and Evans, {D Gareth} and Fasching, {Peter A} and Olivia Fletcher and Henrik Flyger and Lin Fritschi and Manuela Gago-Dominguez and Aleksandra Gentry-Maharaj and Anna Gonz{\'a}lez-Neira and Pascal Gu{\'e}nel and Eric Hahnen and Haiman, {Christopher A} and Ute Hamann and Hartikainen, {Jaana M} and Vikki Ho and James Hodge and Antoinette Hollestelle and Ellen Honisch and Hooning, {Maartje J} and Reiner Hoppe and Hopper, {John L} and Sacha Howell and Anthony Howell and Simona Jakovchevska and Anna Jakubowska and Helena Jernstr{\"o}m and Nichola Johnson and Rudolf Kaaks and Khusnutdinova, {Elza K} and Kitahara, {Cari M} and Stella Koutros and Kristensen, {Vessela N} and Lacey, {James V} and Diether Lambrechts and Flavio Lejbkowicz and Annika Lindblom and Michael Lush and Arto Mannermaa and Dimitrios Mavroudis and Usha Menon and Murphy, {Rachel A} and Heli Nevanlinna and Nadia Obi and Kenneth Offit and Tjoung-Won Park-Simon and Patel, {Alpa V} and Cheng Peng and Paolo Peterlongo and Guillermo Pita and Dijana Plaseska-Karanfilska and Katri Pylk{\"a}s and Paolo Radice and Rashid, {Muhammad U} and Gad Rennert and Eleanor Roberts and Juan Rodriguez and Atocha Romero and Rosenberg, {Efraim H} and Emmanouil Saloustros and Sandler, {Dale P} and Sawyer, {Elinor J} and Schmutzler, {Rita K} and Scott, {Christopher G} and Xiao-Ou Shu and Southey, {Melissa C} and Jennifer Stone and Taylor, {Jack A} and Teras, {Lauren R} and {van de Beek}, Irma and Walter Willett and Robert Winqvist and Wei Zheng and Vachon, {Celine M} and Schmidt, {Marjanka K} and Per Hall and MacInnis, {Robert J} and Milne, {Roger L} and Pharoah, {Paul D P} and Jacques Simard and Antoniou, {Antonis C} and Easton, {Douglas F} and Kyriaki Michailidou and {NBCS Collaborators}",

year = "2024",

month = feb,

day = "13",

doi = "10.1101/2024.02.12.24302043",

language = "English",

journal = "medRxiv",

}

RIS

TY - JOUR

T1 - Differences in polygenic score distributions in European ancestry populations

T2 - implications for breast cancer risk prediction

AU - Yiangou, Kristia

AU - Mavaddat, Nasim

AU - Dennis, Joe

AU - Zanti, Maria

AU - Wang, Qin

AU - Bolla, Manjeet K

AU - Abubakar, Mustapha

AU - Ahearn, Thomas U

AU - Andrulis, Irene L

AU - Anton-Culver, Hoda

AU - Antonenkova, Natalia N

AU - Arndt, Volker

AU - Aronson, Kristan J

AU - Augustinsson, Annelie

AU - Baten, Adinda

AU - Behrens, Sabine

AU - Bermisheva, Marina

AU - de Gonzalez, Amy Berrington

AU - Białkowska, Katarzyna

AU - Boddicker, Nicholas

AU - Bodelon, Clara

AU - Bogdanova, Natalia V

AU - Bojesen, Stig E

AU - Brantley, Kristen D

AU - Brauch, Hiltrud

AU - Brenner, Hermann

AU - Camp, Nicola J

AU - Canzian, Federico

AU - Castelao, Jose E

AU - Cessna, Melissa H

AU - Chang-Claude, Jenny

AU - Chenevix-Trench, Georgia

AU - Chung, Wendy K

AU - Colonna, Sarah V

AU - Couch, Fergus J

AU - Cox, Angela

AU - Cross, Simon S

AU - Czene, Kamila

AU - Daly, Mary B

AU - Devilee, Peter

AU - Dörk, Thilo

AU - Dunning, Alison M

AU - Eccles, Diana M

AU - Eliassen, A Heather

AU - Engel, Christoph

AU - Eriksson, Mikael

AU - Evans, D Gareth

AU - Fasching, Peter A

AU - Fletcher, Olivia

AU - Flyger, Henrik

AU - Fritschi, Lin

AU - Gago-Dominguez, Manuela

AU - Gentry-Maharaj, Aleksandra

AU - González-Neira, Anna

AU - Guénel, Pascal

AU - Hahnen, Eric

AU - Haiman, Christopher A

AU - Hamann, Ute

AU - Hartikainen, Jaana M

AU - Ho, Vikki

AU - Hodge, James

AU - Hollestelle, Antoinette

AU - Honisch, Ellen

AU - Hooning, Maartje J

AU - Hoppe, Reiner

AU - Hopper, John L

AU - Howell, Sacha

AU - Howell, Anthony

AU - Jakovchevska, Simona

AU - Jakubowska, Anna

AU - Jernström, Helena

AU - Johnson, Nichola

AU - Kaaks, Rudolf

AU - Khusnutdinova, Elza K

AU - Kitahara, Cari M

AU - Koutros, Stella

AU - Kristensen, Vessela N

AU - Lacey, James V

AU - Lambrechts, Diether

AU - Lejbkowicz, Flavio

AU - Lindblom, Annika

AU - Lush, Michael

AU - Mannermaa, Arto

AU - Mavroudis, Dimitrios

AU - Menon, Usha

AU - Murphy, Rachel A

AU - Nevanlinna, Heli

AU - Obi, Nadia

AU - Offit, Kenneth

AU - Park-Simon, Tjoung-Won

AU - Patel, Alpa V

AU - Peng, Cheng

AU - Peterlongo, Paolo

AU - Pita, Guillermo

AU - Plaseska-Karanfilska, Dijana

AU - Pylkäs, Katri

AU - Radice, Paolo

AU - Rashid, Muhammad U

AU - Rennert, Gad

AU - Roberts, Eleanor

AU - Rodriguez, Juan

AU - Romero, Atocha

AU - Rosenberg, Efraim H

AU - Saloustros, Emmanouil

AU - Sandler, Dale P

AU - Sawyer, Elinor J

AU - Schmutzler, Rita K

AU - Scott, Christopher G

AU - Shu, Xiao-Ou

AU - Southey, Melissa C

AU - Stone, Jennifer

AU - Taylor, Jack A

AU - Teras, Lauren R

AU - van de Beek, Irma

AU - Willett, Walter

AU - Winqvist, Robert

AU - Zheng, Wei

AU - Vachon, Celine M

AU - Schmidt, Marjanka K

AU - Hall, Per

AU - MacInnis, Robert J

AU - Milne, Roger L

AU - Pharoah, Paul D P

AU - Simard, Jacques

AU - Antoniou, Antonis C

AU - Easton, Douglas F

AU - Michailidou, Kyriaki

AU - NBCS Collaborators

PY - 2024/2/13

Y1 - 2024/2/13

N2 - The 313-variant polygenic risk score (PRS313) provides a promising tool for breast cancer risk prediction. However, evaluation of the PRS313 across different European populations which could influence risk estimation has not been performed. Here, we explored the distribution of PRS313 across European populations using genotype data from 94,072 females without breast cancer, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 225,105 female participants from the UK Biobank. The mean PRS313 differed markedly across European countries, being highest in south-eastern Europe and lowest in north-western Europe. Using the overall European PRS313 distribution to categorise individuals leads to overestimation and underestimation of risk in some individuals from south-eastern and north-western countries, respectively. Adjustment for principal components explained most of the observed heterogeneity in mean PRS. Country-specific PRS distributions may be used to calibrate risk categories in individuals from different countries.

AB - The 313-variant polygenic risk score (PRS313) provides a promising tool for breast cancer risk prediction. However, evaluation of the PRS313 across different European populations which could influence risk estimation has not been performed. Here, we explored the distribution of PRS313 across European populations using genotype data from 94,072 females without breast cancer, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 225,105 female participants from the UK Biobank. The mean PRS313 differed markedly across European countries, being highest in south-eastern Europe and lowest in north-western Europe. Using the overall European PRS313 distribution to categorise individuals leads to overestimation and underestimation of risk in some individuals from south-eastern and north-western countries, respectively. Adjustment for principal components explained most of the observed heterogeneity in mean PRS. Country-specific PRS distributions may be used to calibrate risk categories in individuals from different countries.

U2 - 10.1101/2024.02.12.24302043

DO - 10.1101/2024.02.12.24302043

M3 - SCORING: Journal article

C2 - 38410445

JO - medRxiv

JF - medRxiv

ER -